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Haley McConkey
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1

Haploinsufficiency of ZFHX3, encoding a key player in neuro..:

Pérez Baca, María del Rocío ; Jacobs, Eva Z. ; Vantomme, Lies...
The American Journal of Human Genetics.  111 (2024)  3 - p. 509-528 , 2024
Link: https://doi.org/10.1016/..
 
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2

Contributors:

, In: Epigenetics in Human Disease,
Araki, Yasuto ; Beristain-Pozos, Juan Daniel ; Bhadra, Mridula... - p. xvii-xxiii , 2024
Link: https://doi.org/10.1016/..
 
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3

Refining the 9q34.3 microduplication syndrome reveals mild ..:

Rots, Dmitrijs ; Rooney, Kathleen ; Relator, Raissa...
Clinical Genetics.  105 (2024)  6 - p. 655-660 , 2024
Link: https://doi.org/10.1111/..
 
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4

The detection of a strong episignature for Chung–Jansen syn..:

Vos, Niels ; Haghshenas, Sadegheh ; van der Laan, Liselot...
Human Genetics.  143 (2024)  6 - p. 761-773 , 2024
Link: https://doi.org/10.1007/..
 
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5

Epigenomic mechanisms and episignature biomarkers in rare d..:

, In: Epigenetics in Human Disease,
McConkey, Haley ; Sadikovic, Bekim - p. 1031-1076 , 2024
Link: https://doi.org/10.1016/..
 
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6

DNA methylation episignature, extension of the clinical fea..:

van der Laan, Liselot ; Karimi, Karim ; Rooney, Kathleen...
Genetics in Medicine.  26 (2024)  3 - p. 101050 , 2024
Link: https://doi.org/10.1016/..
 
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7

Identification of the DNA methylation signature of Mowat-Wi..:

Caraffi, Stefano Giuseppe ; van der Laan, Liselot ; Rooney, Kathleen...
European Journal of Human Genetics.  32 (2024)  6 - p. 619-629 , 2024
Link: https://doi.org/10.1038/..
 
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8

Menke-Hennekam syndrome; delineation of domain-specific sub..:

Haghshenas, Sadegheh ; Bout, Hidde J. ; Schijns, Josephine M....
Human Genetics and Genomics Advances.  5 (2024)  3 - p. 100287 , 2024
Link: https://doi.org/10.1016/..
 
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9

Identification of DNA methylation episignature for the inte..:

Karimi, Karim ; Mol, Merel O. ; Haghshenas, Sadegheh...
Genetics in Medicine.  26 (2024)  3 - p. 101041 , 2024
Link: https://doi.org/10.1016/..
 
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10

Diagnostic utility of DNA methylation episignature analysis..:

Bouhamdani, Nadia ; McConkey, Haley ; Leblanc, Amélie..
Frontiers in Genetics.  15 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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11

Contributors:

, In: Epigenetics in Human Disease,
Araki, Yasuto ; Beristain-Pozos, Juan Daniel ; Bhadra, Mridula... - p. xv-xxi , 2024
Link: https://doi.org/10.1016/..
 
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12

DNA methylation analysis in patients with neurodevelopmenta..:

Trajkova, Slavica ; Kerkhof, Jennifer ; Rossi Sebastiano, Matteo...
Human Genetics and Genomics Advances.  5 (2024)  3 - p. 100309 , 2024
Link: https://doi.org/10.1016/..
 
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13

MSL2 variants lead to a neurodevelopmental syndrome with la..:

Karayol, Remzi ; Borroto, Maria Carla ; Haghshenas, Sadegheh...
The American Journal of Human Genetics.  111 (2024)  7 - p. 1330-1351 , 2024
Link: https://doi.org/10.1016/..
 
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14

Diagnostic utility and reporting recommendations for clinic..:

Kerkhof, Jennifer ; Rastin, Cassandra ; Levy, Michael A....
Genetics in Medicine.  26 (2024)  5 - p. 101075 , 2024
Link: https://doi.org/10.1016/..
 
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15

Comprehensive EHMT1 variants analysis broadens genotype-phe..:

Rots, Dmitrijs ; Bouman, Arianne ; Yamada, Ayumi...
The American Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1016/..
 
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